rs740602
This is a synonymous variant in the COMT gene — it does not change the protein's amino acid sequence.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Association of Ala72Ser polymorphism with COMT enzyme activity and the risk of schizophrenia in KoreansAssociationN=699Seong-Gene Lee et al.(2005)· Human Genetics
A case-control study of 320 Korean schizophrenic patients and 379 controls found that the rs6267 (Ala72Ser) polymorphism in the COMT gene is associated with increased schizophrenia risk (adjusted OR=1.82, 95% CI=1.19-2.76; P=0.005), with a stronger effect in females (OR=1.93; P=0.018). The 72Ser allele was correlated with reduced COMT enzyme activity in red blood cells. In contrast, the commonly studied Val158Met polymorphism (rs4680) showed no significant association with schizophrenia in this Korean population.
About COMT
Catechol-O-methyltransferase catalyzes the transfer of a methyl group from S-adenosylmethionine to catecholamines, including the neurotransmitters dopamine, epinephrine, and norepinephrine. This O-methylation results in one of the major degradative pathways of the catecholamine transmitters. In addition to its role in the metabolism of endogenous substances, COMT is important in the metabolism of catechol drugs used in the treatment of hypertension, asthma, and Parkinson disease. COMT is found in two forms in tissues, a soluble form (S-COMT) and a membrane-bound form (MB-COMT). The differences between S-COMT and MB-COMT reside within the N-termini. Several transcript variants are formed through the use of alternative translation initiation sites and promoters. [provided by RefSeq, Sep 2008]
View all COMT variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…